Oculocerebrocutaneous Syndrome

Summarized by Plex Health
Last Updated: 09 May 2022
delleman oorthuys syndrome: 'oculocerebrocutaneous syndrome'. "delleman oorthuys syndrome: 'oculocerebrocutaneous syndrome'.", by Arora V, Kim UR, Khazei HM. F0001: Clinical photograph of patient at one-month with congential cystic mass replacing the eyeball on left side with accessory periocular cystic appendages....

Oculocerebrocutaneous syndrome, uncommon congenital disease, appears at birth. In most patients, the eye on the affected side or sides is also extraordinarily small. In addition, OCC syndrome is defined by underdevelopment or absence of skin in particular local areas and most have extending, brownish or flesh-colored outgrowths of skin within certain facial areas, consisting of around the eyelids, on the cheeks, or near the ears. In all people with OCC syndrome known up until now, the disorder happens periodically. Affected babies might have extra eye problems, such as lack or issues of tissue of the top eyelids, the lower eyelids, or the tinted part of the eye or abnormal persistence of the embryonic blood vessel that supplies certain regions of the eyes Infants with OCC syndrome might additionally have skeletal irregularities. The ventricles in the brain might be obstructive and bigger hydrocephalus might occur, a condition in which there is blocked circulation of the liquid bordering the brain and spinal cord, leading to boosting fluid pressure in the brain leading to quick enhancement of the head and other symptoms. In rare cases, babies with OCC syndrome may have outcropping of a part of the brain and its surrounding membrane layers through a defect in the back of the skull. OCC syndrome additionally has unique skin irregularities. Seldom, babies with OCC syndrome may have other signs, including undescended testes, incomplete closure of the roof of the mouth, clefts involving bigger parts of the face or other physical features.

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